"DE NOVO" TRISOMY OF THE SHORT ARM OF CHROMOSOME 9 (9P TRISOMY). CASE REPORT

• Prif Awduron: Doina Maria Ioan (Awdur), Mariana Moiceanu (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Amaltea Medical Publishing House, 2009-06-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

The authors report the case of a 2 year 9 month old girl with neurodevelopmental delay and dysmorphic facial features: microcephaly, high and arched forehead, proeminence of the metopic suture, enophtalmya, micrognatia, big and malformed ears with low insertion. Classic Cytogenetic analysis with G b...